ClinVar Miner

Submissions for variant NC_000023.10:g.(?_153297634)_(153298028_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805925 SCV000945900 pathogenic Severe neonatal-onset encephalopathy with microcephaly 2021-08-31 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the MECP2 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with Rett syndrome (PMID: 21871116). In at least one individual the variant was observed to be de novo. For these reasons, this variant has been classified as Pathogenic.

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